Investigating rare genetic mutations led scientists to surprising blood pressure discovery

The kidneys are often the unsung heroes in maintaining healthy blood pressure, filtering 180 liters of fluid and a pound of salt every day to keep levels in check. But new research by University of Pittsburgh geneticists and nephrologists shows that, surprisingly, a cellular channel outside the kidneys is doing some of the heavy lifting when it comes to keeping blood pressure under control.

The finding, reported today in the American Heart Association journal Hypertension, points to a promising new target for clinical trials to test existing medications for their potential to lower blood pressure.

“Our findings were entirely unexpected,” said Brandon Michael Blobner, Ph.D., who did the research as part of his doctoral dissertation at Pitt and is now a bioinformatics scientist at BlueSphere Bio in Pittsburgh. “Previously there had been some hints that mutations to salt-processing channels outside the kidneys affected blood pressure, but it would have been impossible to confirm the mechanism without the massive genetics databases that we had access to through cross-disciplinary partnerships.”

Nearly half of U.S. adults have high blood pressure, or hypertension, which is associated with chronic kidney disease and stroke, and it disproportionately affects Black individuals. Only 1 in 4 people have their high blood pressure under control, making it one of the nation’s biggest public health problems, according to the U.S. Centers for Disease Control and Prevention.

High blood pressure is caused, in part, by the levels of fluid and salt getting out of whack, putting stress on artery walls and damaging blood vessels and organs.

The Pitt study focused on the passages — or channels — that the membranes of certain cells use to regulate fluid volume, based on how much sodium the cells contain. Blobner was curious if mutations in the genes that encode subunits of that channel might affect blood pressure.

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